Digital health technology company Congenica Ltd, Cambridge, UK, has integrated two powerful new reference data sources, Decipher and Mastermind, into its clinical decision support platform.
Congenica offers state-of-the-art software to accelerate the interpretation of complex genomic data into actionable diagnostic information. The software helps healthcare professionals work through more cases with greater efficiency, increase diagnostic yield, and have greater confidence in their diagnostic decisions.

Next-generation sequencing (NGS) can yield up to five million genetic variants per patient, making it challenging to quickly identify disease-causing variants. Diverse reference datasets are increasingly being used to aid in the clinical interpretation of patient NGS data.

Decipher is an interactive, Web-based platform that provides contextualized and phenotypic information about pseudonymized, plausibly disease-causing variants from more than 33,000 rare disease patients. Integration of Decipher data containing sequence variants and copy number variants complements Congenica’s existing offering of curated variants to reduce the chance of disease-relevant variants going undetected, and to improve the assignment of variant pathogenicity to optimize diagnostic yield.

The Mastermind genomic search engine, incorporated into the Congenica platform in partnership with Genomenon, Ann Arbor, Mich, contains the largest and most up-to-date collection of genomic literature, providing immediate access to the genetic research associated with patient variants.

The addition of Mastermind will enable Congenica users to quickly access the genetic evidence associated with their patients’ variants, shortening the search time required to clinically interpret a variant and support its pathogenicity.

“The addition of Decipher and Mastermind significantly enhances the already comprehensive range of data sources available in Congenica,” says Rob Denison, CIO of Congenica. “We are committed to empowering healthcare professionals everywhere with access to the best reference datasets in a single platform, so that Congenica users can make better diagnostic decisions, faster, and with complete confidence, to improve the lives of patients and their families.”

For more information, visit Congenica.